Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.E112del1
Back to variants list

LMNA

NM_170707.4:p.E112del1

Associated Papers

Genotype-Phenotype Correlations in Human Diseases Caused by Mutations of LINC Complex-Associated Genes: A Systematic Review and Meta-Summary.

Storey EC et al.

Cells, 2022

36552829 (PubMed )
Supplement: cells-11-04065-s001.zip › Storey___Fuller_Supplementary_Materials_S2_Data_extraction.xlsx › Lamins

Emery-Dreifuss muscular dystrophy.

Heller SA et al.

Muscle & Nerve, 2020

31840275 (PubMed )
Supplement: MUS-61-436-s001.docx

The laminopathies: a clinical review.

Rankin J et al.

Clinical Genetics, 2006

Laminopathies: multisystem dystrophy syndromes.

Jacob KN et al.

Molecular Genetics and Metabolism, 2006

Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes.

Vytopil M et al.

Journal of Medical Genetics, 2003

Novel c.367_369del LMNA mutation manifesting as severe arrhythmias, dilated cardiomyopathy, and myopathy.

Keller H et al.

Heart & Lung : the Journal of Critical Care, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."